Proband information
Proband id | 153 |
---|---|
Systematic Name (NM_004992.3:) |
c.1126C>T |
Protein name (NP_004983) |
p.Pro376Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1162C>T |
Alternate Protein name (NP_001104262) |
p.(Pro388Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296153G>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | NA |
Carrier result | Relative of proband |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Not Rett synd.-Unaffected family member |
Reference | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1126C>T | p.Pro376Ser | Male | Relative of proband | Not Rett synd. | 152 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
2 | c.1126C>T | p.Pro376Ser | Female | Relative of proband | Not Rett synd. | 153 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
3 | c.1126C>T | p.Pro376Ser | Female | Unaffected father is carrier | Rett syndrome-Not certain | 1538 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
4 | c.1126C>T | p.Pro376Ser | Male | Relative of proband | Not Rett synd. | 1539 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
5 | c.1126C>T | p.Pro376Ser | Male | Affected mother 226-I-1 is homozygous for variation (226-I-1's parents are cousins) | Not Rett synd. | 1570 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
6 | c.1126C>T | p.Pro376Ser | Female | Rett syndrome-Not certain | 1655 | ::: | |
7 | c.1126C>T | p.Pro376Ser | Female | Not Known | 1724 | :Friez, Michael:: | |
8 | c.1126C>T | p.Pro376Ser | Female | Not Known | 1757 | :Friez, Michael:: | |
9 | c.1126C>T | p.Pro376Ser | Male | Not Rett synd. | 1908 | ::: | |
10 | c.1126C>T | p.Pro376Ser | Female | Not Known | 2126 | :Cardiff, UK:: | |
11 | c.1126C>T | p.Pro376Ser | Male | Not Rett synd. | 2153 | :Cardiff, UK:: | |
12 | c.1126C>T | p.Pro376Ser | Female | Father has variation | Not Rett synd. | 2493 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
13 | c.1126C>T | p.Pro376Ser | Female | Father has variation | Not Rett synd. | 2495 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 |
14 | c.1126C>T | p.Pro376Ser | Female | mother asymptomatic carrier | Rett syndrome-classical | 2858 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
15 | c.1126C>T | p.Pro376Ser | Female | in daughter with RTT | Not Rett synd. | 4045 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
16 | c.1126C>T | p.Pro376Ser | Female | in unaffected mother | Rett syndrome-not certain | 4072 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
17 | c.1126C>T | p.Pro376Ser | Female | in daughter with RTT | Not Rett synd. | 4073 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |